Canonical Allele Identifier: CA143472
Gene: USH2A HGNC NCBI
USH2A-AS1 HGNC NCBI
ClinGen Evidence Repository:
Classification Benign
Condition Usher syndrome
VCEP Hearing Loss VCEP
MyVariant.info:
GRCh38 chr1:g.216198494C>A
GRCh37 chr1:g.216371836C>A
Revel Score:
ENST00000307340 (MANE Select) 0.218
ENST00000366943 0.218
ENST00000366942 0.218
gnomAD v2:
1:216371836 C / A
gnomAD v3:
1:216198494 C / A
gnomAD v4:
chr1-216198494-C-A
Joint Max Group AF 0.00476453 (SAS)
Genomes Max Group AF 0.00412341 (SAS)
Exomes Max Group AF 0.00471863 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.216198494C>A , CM000663.2:g.216198494C>A GRCh38
NC_000001.10:g.216371836C>A , CM000663.1:g.216371836C>A GRCh37
NC_000001.9:g.214438459C>A NCBI36
NG_009497.1:g.229903G>T
NG_009497.2:g.229955G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000307340.8:c.3902G>T (USH2A) MANE Select ENSP00000305941.3:p.Gly1301Val
ENST00000674083.1:c.3902G>T (USH2A) ENSP00000501296.1:p.Gly1301Val
ENST00000307340.7:c.3902G>T (USH2A) ENSP00000305941.3:p.Gly1301Val
ENST00000366942.3:c.3902G>T (USH2A) ENSP00000355909.3:p.Gly1301Val
NM_007123.5:c.3902G>T (USH2A) NP_009054.5:p.Gly1301Val
NM_206933.2:c.3902G>T (USH2A) NP_996816.2:p.Gly1301Val
XR_922595.1:n.354+2569C>A (USH2A-AS1)
XR_922596.1:n.354+2569C>A (USH2A-AS1)
XR_922597.1:n.354+2569C>A (USH2A-AS1)
XR_922598.1:n.484+2569C>A (USH2A-AS1)
XR_922595.3:n.1076+2569C>A (USH2A-AS1)
XR_922596.3:n.1076+2569C>A (USH2A-AS1)
NM_206933.3:c.3902G>T (USH2A) NP_996816.2:p.Gly1301Val
NM_007123.6:c.3902G>T (USH2A) NP_009054.6:p.Gly1301Val
NM_206933.4:c.3902G>T (USH2A) MANE Select NP_996816.3:p.Gly1301Val
Search 100 bp 5'
Search 100 bp 3'